What is CHARGE syndrome?
CHARGE syndrome is a complex syndrome that causes a range of physical and health problems that vary from child to child.
Children with CHARGE syndrome tend to have problems with their senses of sight, hearing, smell, taste and touch. CHARGE syndrome is one of the leading causes of deafblindness at birth.
CHARGE syndrome gets its name from the features that were originally used to diagnose it. It’s now diagnosed differently, but the name CHARGE has stayed the same:
C – ocular coloboma
H – congenital heart defects
A – choanal atresia
R – retardation of growth/development
G – genital anomalies
E – ear anomalies/deafness.
CHARGE syndrome is a genetic disorder. It’s caused by changes in a particular gene, usually the CHD7 gene. In most cases there’s no family history of the disorder or similar conditions. But if you have CHARGE syndrome yourself, your chance of having a child with CHARGE syndrome is about 50%. If you have one child with CHARGE syndrome, there’s a 1% chance that your next child will also have the syndrome.
CHARGE syndrome is a rare condition. It happens in about 1 in 10 000-15 000 births.
Signs and symptoms of CHARGE syndrome
The signs and symptoms of CHARGE syndrome can vary a lot from child to child.
There are some physical signs that are very common in children with CHARGE syndrome and relatively rare in other conditions. These include:
- a slit or groove in one of the structures of the eye (coloboma of the eye), like the iris or retina, which causes vision loss
- blocked nasal passages (choanal atresia), which causes breathing problems
- no sense of smell (anosmia)
- difficulty swallowing, which causes feeding problems
- weakness or paralysis of the facial muscles (facial palsy)
- middle and inner ear malformations, which can cause hearing loss and balance problems
- outer ear malformations like floppy ears or small or absent earlobes
- short stature.
Other possible physical signs include:
- low muscle tone
- skeletal abnormalities
- cleft lip or cleft palate
- heart defects
- genital and/or urinary abnormalities.
Children with CHARGE syndrome have widely varying thinking and learning abilities. The development of these abilities can be delayed because of children’s complex medical issues.
Most children with CHARGE syndrome have problems with their hearing, vision and balance. This affects the development of gross motor skills, fine motor skills and communication.
Children with CHARGE syndrome often have behaviour challenges because they find it difficult to communicate effectively and self-regulate.
Possible behaviour signs can include:
- repetitive behaviour – for example, biting, pacing or talking
- sensation-seeking – for example, seeking bright colours or strongly flavoured food
- difficulty with self-regulation, especially when children are stressed or overwhelmed
- difficulty shifting attention and moving on to new things
- difficulty with focus and concentration.
Children with CHARGE syndrome generally enjoy being social and tend to have a great sense of humour.
Diagnosis and testing for CHARGE syndrome
Health professionals diagnose CHARGE syndrome by looking at a child’s medical features.
Genetic testing is also recommended for diagnosis. In most cases, genetic testing confirms the CHARGE diagnosis.
Early intervention services for children with CHARGE syndrome
Early intervention is the best way to support your child’s development. Early intervention includes therapies, education and other supports that will help your child reach their full potential.
Early intervention should also include helping you learn how to spend time with your child in ways that support their development. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you can help your child a lot.
You and your child will probably work with many health and other professionals as part of your child’s early intervention. These professionals might include paediatricians, psychologists, audiologists, physiotherapists, gastroenterologists, ophthalmologists, speech pathologists, occupational therapists, orientation and mobility specialists, deafblind consultants and special education teachers.
It’s good to see yourself as working in partnership with your child’s professionals. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.
Financial support for children with CHARGE syndrome
If your child has a confirmed diagnosis of CHARGE syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. It also gives you funding for things like early intervention therapies or one-off items like wheelchairs.
Looking after yourself and your family
Although it’s easy to get caught up in looking after your child with CHARGE syndrome, it’s important to look after your own wellbeing too. If you take care of yourself, you’ll be better able to care for your child.
If you need support, you could start by talking with your GP or a genetic counsellor. You can also get support from organisations like Charge Syndrome Australasia, Genetic Alliance Australia and Genetic Support Network of Victoria.
Talking to other parents can be a great way to get support too. You can connect with other parents in similar situations by joining a face-to-face or an online support group.
If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.